NM_003722.5:c.1766T>A

HGVS Expressions

  • NG_007550.1:g.267799T>A
  • NM_003722.5:c.1766T>A
  • NP_003713.3:p.Ile589Asn

Associated Genes

Tumor Protein p63
Back to search Result
Genomic Location

chr3:189894225

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604292.2Oman1PathogenicEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3Al-Gazali and Ali, 2010
© CAGS 2024. All rights reserved.